InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AP1S1

Summary

InnateDB Protein

IDBP-384124.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AP1S1

Protein Name

adaptor-related protein complex 1, sigma 1 subunit

Synonyms

AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A; WUGSC:H_DJ0747G18.2;

Species

Homo sapiens

Ensembl Protein

ENSP00000410780

InnateDB Gene

IDBG-33022 (AP1S1)

Protein Structure

UniProt Annotation

Function

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO:0000269PubMed:9733768}.

Subcellular Localization

Golgi apparatus {ECO:0000269PubMed:9733768}. Cytoplasmic vesicle membrane {ECO:0000269PubMed:9733768}; Peripheral membrane protein {ECO:0000269PubMed:9733768}; Cytoplasmic side {ECO:0000269PubMed:9733768}. Membrane, clathrin-coated pit {ECO:0000269PubMed:9733768}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.

Disease Associations

Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. {ECO:0000269PubMed:19057675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:9733768}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008565	protein transporter activity

Biological Process

GO:0006810	transport
GO:0006886	intracellular protein transport
GO:0006892	post-Golgi vesicle-mediated transport
GO:0006898	receptor-mediated endocytosis
GO:0009615	response to virus
GO:0015031	protein transport
GO:0016032	viral process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0050690	regulation of defense response to virus by virus
GO:0061024	membrane organization

Cellular Component

GO:0000139	Golgi membrane
GO:0005765	lysosomal membrane
GO:0005829	cytosol
GO:0005905	coated pit
GO:0016020	membrane
GO:0030121	AP-1 adaptor complex
GO:0030659	cytoplasmic vesicle membrane
GO:0032588	trans-Golgi network membrane
GO:0070062	extracellular vesicular exosome